(Q24676646)

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Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders

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title

Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders (English)

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P S Harper

1

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language of work or name

English

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publication date

29 June 1999

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published in

Philosophical Transactions of the Royal Society B

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volume

354

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issue

1386

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page(s)

957-61

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cites work

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Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

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A polymorphic DNA marker genetically linked to Huntington's disease

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Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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https://api.crossref.org/works/10.1098%2FRSTB.1999.0446

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7 January 2021

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The problem of anticipation in pedigrees of dystrophia myotonica

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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

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7 January 2021

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Identifiers

DOI

10.1098/RSTB.1999.0446

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ResearchGate publication ID

12866067

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(Q24676646)

Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders

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